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PREPL in Health and Disease (PHD)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02263781
Recruitment Status : Unknown
Verified September 2014 by Universitaire Ziekenhuizen Leuven.
Recruitment status was:  Not yet recruiting
First Posted : October 13, 2014
Last Update Posted : October 15, 2014
Sponsor:
Collaborator:
KU Leuven
Information provided by (Responsible Party):
Universitaire Ziekenhuizen Leuven

Brief Summary:
Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients

Condition or disease Intervention/treatment Phase
Hypotonia-Cystinuria Syndrome Muscle Hypotonia Healthy Volunteers Dwarfism, Growth Hormone Deficiency Obesity Prader-Willi Syndrome Procedure: Blood draw Procedure: muscle biopsy Not Applicable

Detailed Description:

PREPL is defective in hypotonia cystinuria syndrome and in isolated PREPL deficiency. The investigators have constructed a blood test to evaluate PREPL activity in patients with possible PREPL deficiency.

The study will determine normal values for age (0-18) for PREPL activity in blood.

Also, patients with a clinical phenotype that overlaps with PREPL deficiency (including patients with known primary PREPL deficiency and Prader-Willi syndrome) will be evaluated for PREPL activity in blood.

A last part of the study will involve muscle biopsies during elective anesthesia/surgery for other reasons. There will be 2 groups: patients without signs of PREPL deficiency undergoing surgery (controls) and patients with Prader-Willi syndrome undergoing anesthesia or surgery (patients). The control group will be age-matched to the hypotonia group. In the muscle biopsies, PREPL activity and expression will be evaluated.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 125 participants
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: PREPL in Health and Disease
Study Start Date : October 2014
Estimated Primary Completion Date : January 2015
Estimated Study Completion Date : January 2015


Arm Intervention/treatment
Experimental: Control Blood
Patients on routine postinfectious control, blood draw
Procedure: Blood draw
Blood draw

Experimental: Primary PREPL deficiency Blood
Patients with primary PREPL deficiency, blood draw
Procedure: Blood draw
Blood draw

Experimental: Prader Willi syndrome Blood
Patients with Prader-Willi syndrome, blood draw
Procedure: Blood draw
Blood draw

Experimental: Primary PREPL deficiency like Blood
Patients with symptoms overlapping with primary PREPL deficiency (like hypotonia, growth hormone deficiency, obesity), blood draw
Procedure: Blood draw
Blood draw

Experimental: Control muscle
Patients without hypotonia, growth hormone deficiency, obesity, undergoing elective surgery, muscle biopsy from the surgical site and blood draw
Procedure: Blood draw
Blood draw

Procedure: muscle biopsy
Muscle biopsy during planned anesthesia/surgery

Experimental: Prader-Willli syndrome muscle
Patients with Prader-Willi syndrome undergoing elective anesthesia or surgery, muscle biopsy (from surgical site if applicable) and blood draw
Procedure: Blood draw
Blood draw

Procedure: muscle biopsy
Muscle biopsy during planned anesthesia/surgery




Primary Outcome Measures :
  1. PREPL activity (ng active PREPL/g protein) normal values in blood [ Time Frame: 3 months ]
    normal values for PREPL activity

  2. PREPL activity in patients with Prader Willi syndrome compared to activity in normal controls [ Time Frame: 3 months ]
    Comparison of PREPL activity in blood and muscle between above mentioned groups

  3. PREPL activity in patients with primary PREPL deficiency compared to activity in normal controls [ Time Frame: 3 months ]
    Comparison of PREPL activity in blood between above mentioned groups


Secondary Outcome Measures :
  1. PREPL activity in patients with muscle weakness/obesity/growth hormone deficiency compared to activity in normal controls [ Time Frame: 3 months ]
    exploratory evaluation



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Ages Eligible for Study:   up to 40 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

Inclusion Criteria:

  • According to group
  • Control group: children seen at a postinfectious consultation

Exclusion Criteria:

  • Control group: symptoms overlapping with PREPL deficiency, genetic or syndromic disease, atypically developing children
  • other groups: contraindication for blood draw
  • group with muscle biopsy: contra-indication for muscle biopsy

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02263781


Contacts
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Contact: Luc Régal, MD 003216343820 luc.regal@uzleuven.be

Locations
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Belgium
UZLeuven
Leuven, Belgium, 3000
Contact: Luc Régal, MD    003216343820    Luc.regal@uzleuven.be   
Principal Investigator: Luc Régal, MD         
Sponsors and Collaborators
Universitaire Ziekenhuizen Leuven
KU Leuven
Investigators
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Principal Investigator: Luc Régal, MD KU Leuven

Publications:
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Responsible Party: Universitaire Ziekenhuizen Leuven
ClinicalTrials.gov Identifier: NCT02263781    
Other Study ID Numbers: S57206
First Posted: October 13, 2014    Key Record Dates
Last Update Posted: October 15, 2014
Last Verified: September 2014
Additional relevant MeSH terms:
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Dwarfism
Dwarfism, Pituitary
Prader-Willi Syndrome
Muscle Hypotonia
Cystinuria
Syndrome
Disease
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Obesity
Overnutrition
Nutrition Disorders
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Endocrine System Diseases
Renal Aminoacidurias
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Metabolism, Inborn Errors
Metabolic Diseases
Neuromuscular Manifestations